ClinVar Miner

List of variants in gene COL7A1 studied for Dominant dystrophic epidermolysis bullosa with absence of skin

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000094.4(COL7A1):c.5443G>A (p.Gly1815Arg)	rs121912841
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg)	rs121912832
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg)	rs762162799

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